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386 Possible Causes for Cardiomyopathy, Round Face, Short Neck

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.nlm.nih.gov] […] mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[symptoma.com]

  • Mucopolysaccharidosis 1

    Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening[omicsonline.org] Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Features include short-trunk dwarfism, short neck, joint hypermobility, respiratory disease, cardiac disease, impaired vision with corneal clouding, hearing loss, dental abnormalities[invitae.com]

  • Pseudopseudohypoparathyroidism

    Keywords: Albright hereditary osteodystrophy; GNAS1; MC4R; normal stature; pseudopseudohypoparathyroidism Figures Normal stature, obesity, round face, short neck (A), short[e-enm.org] Hypofunction Diabetes mellitus types: ( type 1 , type 2 , MODY 1 2 3 4 5 6 ) · complications ( coma , angiopathy , ketoacidosis , nephropathy , neuropathy , retinopathy , cardiomyopathy[dictionnaire.sensagent.leparisien.fr] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[malacards.org] , myofibrillar MYPN Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) NEXN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy[genda.com.ar] […] dystrophy Pulverulent cataract Autosomal dominant nonsyndromic sensorineural deafness type DFNA Left ventricular noncompaction Nuclear cataract Familial isolated dilated cardiomyopathy[csbg.cnb.csic.es]

  • Barth Syndrome

    Infants born with Jarcho-Levin syndrome have short necks, limited neck movement, a short stature and difficulty breathing, due to small, malformed chests that have a distinctive[verywellhealth.com] Grimm, W, Christ, M, Bach, J, Muller, HH, Maisch, B 2003 Noninvasive arrhythmia risk stratification in idiopathic dilated cardiomyopathy: results of the Marburg Cardiomyopathy[dx.doi.org] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]

  • Trisomy 12p

    […] double‐outlet right ventricle Teber, Serap / Sezer, Taner / Aypar, Ebru / Kendirli, Tanıl / Atalay, Semra / Deda, Gülhis 2010 503 Prader–Willi syndrome associated with dilated cardiomyopathy[tib.eu] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] neck, rounded facies with prominent cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism.[epilepsydiagnosis.org]

  • Cri Du Chat Syndrome

    neck Studies show that facial characteristics change over time, in particular, lengthening of the face and coarsening of features.[findresources.co.uk] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov] neck partial webbing or fusion of fingers or toes a single crease in the palm of the hands slow or incomplete development of developmental skills heart defects.[contact.org.uk]

  • Aarskog Syndrome

    Hunter Syndrome Huntington Disease Huntington Disease – Non-Disclosing Hurler Syndrome Hyaline Fibromatosis Syndrome Hydrocephalus Hypertrophic Cardiomyopathy Hypokalemic[hfi-ivf.com] Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a[ncbi.nlm.nih.gov] Keywords Internal Medicine Metabolic Disease Short Stature Short Neck Small Hand These keywords were added by machine and not by the authors.[link.springer.com]

  • Pseudohypoparathyroidism Type 1C

    N D00000235 Hypertrophic cardiomyopathy N D00000236 Hypertrophic cardiomyopathy (familial) N D00000237 Idiopathic dilated cardiomyopathy N D00000238 Long QT syndrome N D00000239[genes2cognition.org] Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abdominal symptom 0011458[rarediseases.info.nih.gov] They display the symptoms and signs of AHO (brachydactyly (most often the shortening of the 3, 4 and 5th metacarpals), rounded face, short stature, central obesity, subcutaneous[orpha.net]

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